Canonical Allele Identifier: CA412642346

Gene: GK

Linked Data

• MyVariant Identifiers: chrX:g.30742241T>G (hg19) ; chrX:g.30724124T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30724124T>G , CM000685.2:g.30724124T>G	GRCh38
NC_000023.10:g.30742241T>G , CM000685.1:g.30742241T>G	GRCh37
NC_000023.9:g.30652162T>G	NCBI36
NG_008178.1:g.75766T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692461.1:c.1591T>G	ENSP00000509378.1:p.Trp531Gly
ENST00000427190.6:c.1525T>G MANE Select	ENSP00000401720.2:p.Trp509Gly
ENST00000479048.6:c.*1228T>G	ENSP00000420676.1:n.*1228T>G
ENST00000378943.7:c.1507T>G	ENSP00000368226.3:p.Trp503Gly
ENST00000378945.7:c.1507T>G	ENSP00000368228.3:p.Trp503Gly
ENST00000378946.7:c.1525T>G	ENSP00000368229.3:p.Trp509Gly
ENST00000427190.5:c.1525T>G	ENSP00000401720.2:p.Trp509Gly
ENST00000481024.5:c.*1381T>G	ENSP00000418873.1:n.*1381T>G
NM_000167.5:c.1507T>G	NP_000158.1:p.Trp503Gly
NM_001128127.2:c.1507T>G	NP_001121599.1:p.Trp503Gly
NM_001205019.1:c.1525T>G	NP_001191948.1:p.Trp509Gly
NM_203391.3:c.1525T>G	NP_976325.1:p.Trp509Gly
XM_005274488.3:c.892T>G	XP_005274545.1:p.Trp298Gly
XM_006724483.2:c.1591T>G	XP_006724546.1:p.Trp531Gly
XM_006724484.2:c.1591T>G	XP_006724547.1:p.Trp531Gly
XM_006724485.2:c.910T>G	XP_006724548.1:p.Trp304Gly
XM_006724486.2:c.910T>G	XP_006724549.1:p.Trp304Gly
XM_011545491.1:c.1609T>G	XP_011543793.1:p.Trp537Gly
XM_011545492.1:c.1609T>G	XP_011543794.1:p.Trp537Gly
XM_011545493.1:c.910T>G	XP_011543795.1:p.Trp304Gly
XM_011545494.1:c.910T>G	XP_011543796.1:p.Trp304Gly
XM_005274488.4:c.892T>G	XP_005274545.1:p.Trp298Gly
XM_006724486.3:c.910T>G	XP_006724549.1:p.Trp304Gly
XM_011545491.2:c.1609T>G	XP_011543793.1:p.Trp537Gly
XM_011545493.2:c.910T>G	XP_011543795.1:p.Trp304Gly
XM_011545494.2:c.910T>G	XP_011543796.1:p.Trp304Gly
XM_017029409.1:c.910T>G	XP_016884898.1:p.Trp304Gly
XM_017029410.1:c.910T>G	XP_016884899.1:p.Trp304Gly
XM_017029411.1:c.892T>G	XP_016884900.1:p.Trp298Gly
XM_017029412.2:c.892T>G	XP_016884901.1:p.Trp298Gly
NM_000167.6:c.1507T>G	NP_000158.1:p.Trp503Gly
NM_001128127.3:c.1507T>G	NP_001121599.1:p.Trp503Gly
NM_001205019.2:c.1525T>G MANE Select	NP_001191948.1:p.Trp509Gly
NM_203391.4:c.1525T>G	NP_976325.1:p.Trp509Gly
NM_001399987.1:c.1591T>G	NP_001386916.1:p.Trp531Gly
NR_174369.1:n.1805T>G
NR_174370.1:n.1533T>G
NR_174371.1:n.1459T>G
NR_174372.1:n.1441T>G
NR_174373.1:n.1515T>G
NR_174374.1:n.1459T>G
NR_174375.1:n.1441T>G